Research Profile (COS)

The focus of Dr. Raskind’s research is the study of neurobehavioral disorders, both single gene and complex in etiology. A major endeavor is to identify genes involved in dyslexia and other complex behavioral disorders. A multidisciplinary team consisting of faculty from the College of Education and several departments in the School of Medicine has collected multigenerational families to characterize, model and map genetic subtypes of dyslexia. Quantitative measures used in the clinical assessment of reading disabled children are studied individually and in combination. These include measures of executive function as well as reading and related processes. Parametric and nonparametric genetic modeling and linkage analyses are employed. The laboratory also has a strong interest in mapping and positional cloning of genes responsible for mendelian neurologic diseases, including cerebellar ataxias, spastic parapareses, myokymia, choreas and episodic disorders. They found that mutations in PKC&gamma, a serine-threonine kinase, cause a form of spinocerebellar Ataxia (SCA14) and are studying the effect of mutations in vitro and in mouse models.

Investigator

Dr. Raskind is Professor of Medicine (Medical Genetics), Adjunct Professor of Genome Sciences, and Joint Professor of Psychiatry and Behavioral Sciences.

Publications

Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, Raskind WH: Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am J Med Genet (Neuropsych section) 114:450-457, 2002.

Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, and Raskind WH: X-linked thrombocytopenia with thalassemia due to a mutation in the amino-finger of GATA-1 affecting DNA-binding rather than FOG-1 interaction. Blood 100:2040-2045, 2002.

Chen D-H, Brkanac Z, Verlinde CLMJ, Tan X-J, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Missense mutations in the regulatory domain of PKC?: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849, 2003.

Chen D-H, Matsushita M, Rainier, S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird, TD, Raskind WH. Alanine to valine substitutions in myofibrillogenesis regulator 1 cause paroxysmal nonkinesigenic dyskinesia: confirmation in two kindreds. Arch Neurol 62:597-600, 2005.

Raskind WH, Igo RP, Jr, Chapman NH, Berninger VW, Thomson JB, Matsushita M, Brkanac Z , Holzman T, Brown M, Wijsman EM. A genome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency. Molec Psychiatry, 10:699-711, 2005.

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Last updated: July 6, 2004